GENE NAME | CP |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000047457 |
ENTREZ ID | 1356 |
UNIPROT ACCESSION NUMBER | P00450 |
GO MOLECULAR FUNCTION | copper ion binding; chaperone binding; ferroxidase activity; metal ion binding; oxidoreductase activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-425410; R-HSA-5619102; R-HSA-382551; hsa04216; R-HSA-5619115; hsa00860; R-HSA-425366; hsa04216; R-HSA-597592; hsa00860; R-HSA-1643685; R-HSA-381426; R-HSA-425407; R-HSA-392499; R-HSA-5619060; R-HSA-917937; R-HSA-5619049; R-HSA-8957275 |
1 combination linked to CP | OLI462 |
1 variant linked to CP | CP:c.313delG, p.Val105PhefsTer5 |
1 disease linked to CP | Mitochondrial membrane protein-associated neurodegeneration |